Incidental Mutation 'IGL02706:Ppp2r1b'
| ID |
304354 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp2r1b
|
| Ensembl Gene |
ENSMUSG00000032058 |
| Gene Name |
protein phosphatase 2, regulatory subunit A, beta |
| Synonyms |
2410091N08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
IGL02706
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50767946-50810625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50790134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 564
(D564G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000114437]
[ENSMUST00000174628]
[ENSMUST00000175640]
[ENSMUST00000175645]
[ENSMUST00000175926]
[ENSMUST00000176055]
[ENSMUST00000176349]
[ENSMUST00000176798]
|
| AlphaFold |
Q7TNP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034560
AA Change: D564G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: D564G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
2.2e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
182 |
243 |
9.9e-6 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
5.9e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
|
Pfam:HEAT_2
|
495 |
596 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114437
AA Change: D564G
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: D564G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
1.6e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
180 |
243 |
7.3e-6 |
PFAM |
|
Pfam:HEAT
|
217 |
247 |
4.3e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
4.2e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
9e-11 |
PFAM |
|
Pfam:HEAT_2
|
494 |
597 |
4.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174628
AA Change: D564G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: D564G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
4.6e-6 |
PFAM |
|
Pfam:HEAT
|
217 |
247 |
4.5e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
4.3e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.7e-11 |
PFAM |
|
low complexity region
|
643 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175640
AA Change: D437G
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058
AA Change: D437G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
129 |
159 |
5.7e-5 |
PFAM |
|
Pfam:HEAT
|
168 |
198 |
4e-6 |
PFAM |
|
Pfam:HEAT_2
|
251 |
352 |
6.3e-11 |
PFAM |
|
Pfam:HEAT_2
|
365 |
470 |
3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175645
AA Change: D519G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: D519G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT_EZ
|
173 |
243 |
8e-6 |
PFAM |
|
Pfam:HEAT
|
178 |
208 |
1.8e-6 |
PFAM |
|
Pfam:HEAT
|
217 |
247 |
4.9e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
4.8e-6 |
PFAM |
|
Pfam:HEAT_2
|
449 |
552 |
3.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175926
|
| SMART Domains |
Protein: ENSMUSP00000134886
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b3ua_
|
14 |
104 |
4e-15 |
SMART |
|
PDB:3DW8|D
|
22 |
104 |
4e-45 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176055
|
| SMART Domains |
Protein: ENSMUSP00000135253
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3DW8|D
|
1 |
51 |
1e-26 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176349
AA Change: D500G
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: D500G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
114 |
144 |
2e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
116 |
179 |
8.7e-6 |
PFAM |
|
Pfam:HEAT
|
153 |
183 |
5.5e-5 |
PFAM |
|
Pfam:HEAT
|
231 |
261 |
5.3e-6 |
PFAM |
|
Pfam:HEAT_2
|
314 |
415 |
9.3e-11 |
PFAM |
|
Pfam:HEAT_2
|
430 |
532 |
4.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176798
AA Change: D564G
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: D564G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
2.3e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
182 |
243 |
1e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
6e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
|
Pfam:HEAT_2
|
495 |
596 |
5.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176414
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,517,966 (GRCm39) |
E781G |
probably benign |
Het |
| Abcc8 |
C |
T |
7: 45,816,345 (GRCm39) |
R265Q |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,027 (GRCm39) |
I193N |
probably benign |
Het |
| Atp6v1e2 |
A |
G |
17: 87,252,362 (GRCm39) |
I12T |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,347,818 (GRCm39) |
T757A |
probably damaging |
Het |
| Cldn15 |
A |
G |
5: 137,003,685 (GRCm39) |
K200R |
probably benign |
Het |
| Dip2b |
G |
T |
15: 100,113,192 (GRCm39) |
V1302F |
probably damaging |
Het |
| Dnajb6 |
T |
A |
5: 29,957,421 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dok1 |
T |
A |
6: 83,009,315 (GRCm39) |
E179V |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,403,482 (GRCm39) |
T342A |
probably damaging |
Het |
| Etf1 |
A |
T |
18: 35,064,690 (GRCm39) |
S6R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,250,506 (GRCm39) |
I987V |
probably benign |
Het |
| Gba2 |
C |
T |
4: 43,567,257 (GRCm39) |
G897S |
probably benign |
Het |
| Habp2 |
G |
T |
19: 56,298,570 (GRCm39) |
|
probably null |
Het |
| Hapln1 |
G |
T |
13: 89,753,578 (GRCm39) |
S248I |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,137,198 (GRCm39) |
D667G |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,359,222 (GRCm39) |
H1074L |
probably damaging |
Het |
| Kctd9 |
T |
C |
14: 67,962,130 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
A |
G |
17: 68,793,914 (GRCm39) |
D306G |
probably damaging |
Het |
| Lgalsl |
T |
C |
11: 20,780,090 (GRCm39) |
R49G |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,708,599 (GRCm39) |
S133N |
probably benign |
Het |
| Lrp8 |
A |
T |
4: 107,660,516 (GRCm39) |
R59* |
probably null |
Het |
| Mctp1 |
T |
C |
13: 76,971,188 (GRCm39) |
F629S |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,047,533 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
C |
3: 55,944,699 (GRCm39) |
H555R |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,522,147 (GRCm39) |
H630R |
possibly damaging |
Het |
| Nr3c2 |
A |
T |
8: 77,635,045 (GRCm39) |
|
probably null |
Het |
| Nubp2 |
A |
T |
17: 25,102,171 (GRCm39) |
V267E |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,882,792 (GRCm39) |
Y629F |
probably damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,731 (GRCm39) |
I43T |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,918,091 (GRCm39) |
H87Q |
probably damaging |
Het |
| Or5b119 |
A |
T |
19: 13,457,462 (GRCm39) |
Y33* |
probably null |
Het |
| Pknox2 |
T |
C |
9: 36,847,675 (GRCm39) |
H114R |
probably benign |
Het |
| Ppp3ca |
T |
G |
3: 136,611,079 (GRCm39) |
N367K |
possibly damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,852,518 (GRCm39) |
V525A |
probably damaging |
Het |
| Reps1 |
T |
G |
10: 17,998,763 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,444,207 (GRCm39) |
I973V |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,344,232 (GRCm39) |
V739D |
possibly damaging |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,395 (GRCm39) |
F250L |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,921,881 (GRCm39) |
H84Q |
possibly damaging |
Het |
| Usp34 |
T |
C |
11: 23,338,659 (GRCm39) |
|
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,042,758 (GRCm39) |
L481I |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,790 (GRCm39) |
H604R |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,076,256 (GRCm39) |
M63K |
probably damaging |
Het |
|
| Other mutations in Ppp2r1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Ppp2r1b
|
APN |
9 |
50,789,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01623:Ppp2r1b
|
APN |
9 |
50,789,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02120:Ppp2r1b
|
APN |
9 |
50,773,069 (GRCm39) |
splice site |
probably benign |
|
|
IGL02158:Ppp2r1b
|
APN |
9 |
50,772,909 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02801:Ppp2r1b
|
APN |
9 |
50,790,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02943:Ppp2r1b
|
APN |
9 |
50,794,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Ppp2r1b
|
UTSW |
9 |
50,772,873 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Ppp2r1b
|
UTSW |
9 |
50,772,873 (GRCm39) |
nonsense |
probably null |
|
|
R0211:Ppp2r1b
|
UTSW |
9 |
50,772,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0603:Ppp2r1b
|
UTSW |
9 |
50,772,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Ppp2r1b
|
UTSW |
9 |
50,778,621 (GRCm39) |
splice site |
probably benign |
|
|
R1513:Ppp2r1b
|
UTSW |
9 |
50,781,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Ppp2r1b
|
UTSW |
9 |
50,773,725 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1997:Ppp2r1b
|
UTSW |
9 |
50,778,671 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1998:Ppp2r1b
|
UTSW |
9 |
50,794,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Ppp2r1b
|
UTSW |
9 |
50,777,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Ppp2r1b
|
UTSW |
9 |
50,773,794 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4672:Ppp2r1b
|
UTSW |
9 |
50,779,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5299:Ppp2r1b
|
UTSW |
9 |
50,768,340 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5376:Ppp2r1b
|
UTSW |
9 |
50,778,228 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5504:Ppp2r1b
|
UTSW |
9 |
50,770,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Ppp2r1b
|
UTSW |
9 |
50,789,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Ppp2r1b
|
UTSW |
9 |
50,778,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7547:Ppp2r1b
|
UTSW |
9 |
50,773,762 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7626:Ppp2r1b
|
UTSW |
9 |
50,789,476 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8498:Ppp2r1b
|
UTSW |
9 |
50,778,194 (GRCm39) |
nonsense |
probably null |
|
|
R9096:Ppp2r1b
|
UTSW |
9 |
50,777,856 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9201:Ppp2r1b
|
UTSW |
9 |
50,789,447 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Ppp2r1b
|
UTSW |
9 |
50,778,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ppp2r1b
|
UTSW |
9 |
50,784,945 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation